Recherche
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Mutation in exon 7 of PTCH deregulates SHH/PTCH/SMO signaling: Possible linkage to WNT
(International Journal of Molecular Medicine, 2006-05-01)Article de revue -
Etude clinique de mutations germinales du gène PTCH dans une série de 22 malades atteints du Syndrome de Gorlin
(Annales de Dermatologie et de Vénéréologie. vol. 133, n° 2, 2006)Article de revue -
Spectrum of PTCH1 Mutations in French Patients with Gorlin Syndrome
(Journal of Investigative Dermatology. vol. 121, n° 3, pp. 478-481, 2003-09)Article de revue -
The contribution of large genomic deletions at the CDKN2A locus to the burden of familial melanoma
(British Journal of Cancer. vol. 99, n° 2, pp. 364-370, 2008-07)Article de revue -
Gorlin syndrome presenting as prenatal chylothorax in a girl
(Prenatal Diagnosis. vol. 25, n° 11, pp. 997-999, 2005-11)Article de revue -
Heterozygous mutations in the tumor suppressor gene PATCHED provoke basal cell carcinoma-like features in human organotypic skin cultures
(Oncogene. vol. 27, n° 51, pp. 6601-6606, 2008-10)Article de revue -
COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke
(Annals of Neurology. vol. 62, n° 2, pp. 177-184, 2007-08)Article de revue -
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
(European Journal of Human Genetics. vol. 15, n° 8, pp. 843-847, 2007-08)Article de revue -
Ultraviolet responses of Gorlin syndrome primary skin cells
(British Journal of Dermatology. vol. 159, n° 2, pp. 445-452, 2008-08)Article de revue -
Pharmacogenetics of human carboxylesterase 2, an enzyme involved in the activation of irinotecan into SN-38
(Clinical Pharmacology and Therapeutics. vol. 76, n° 6, pp. 528-535, 2004-12)Article de revue